白化病是一种黑色素代谢紊乱的遗传性疾病,世界各地均有,发病率为1/10000-1/20000。正常人体的毛发和皮肤的颜色是由黑色素沉着所致,而黑色素是由黑色素细胞胞浆中的细胞器——黑色素体合成的。正常情况下黑色素的合成由含有铜的酚氧化酶(又名酪氨酸酶)所催化 Albinism is a genetic disorder of melanin metabolic disorders, all over the world, the incidence rate of 1 / 10000-1 / 20000. Normal human hair and skin color is caused by melanin deposition, and melanin is the cytosol of melanocytes cells organelles - melanosome synthesis. The synthesis of melanin is normally catalyzed by a copper-containing phenol oxidase (aka tyrosinase)